Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

FYVE, RhoGEF and PH domain-containing protein 1

Gene

FGD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri730 – 790FYVE-typePROSITE-ProRule annotationAdd BLAST61

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • Rho guanyl-nucleotide exchange factor activity Source: Reactome
  • small GTPase binding Source: UniProtKB

GO - Biological processi

  • actin cytoskeleton organization Source: UniProtKB
  • animal organ morphogenesis Source: ProtInc
  • cytoskeleton organization Source: UniProtKB
  • filopodium assembly Source: UniProtKB
  • G-protein coupled receptor signaling pathway Source: Reactome
  • multicellular organism development Source: ProtInc
  • positive regulation of apoptotic process Source: Reactome
  • regulation of cell shape Source: UniProtKB
  • regulation of GTPase activity Source: UniProtKB
  • regulation of Rho protein signal transduction Source: InterPro
  • regulation of small GTPase mediated signal transduction Source: Reactome
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionGuanine-nucleotide releasing factor
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events

Names & Taxonomyi

Protein namesi
Recommended name:
FYVE, RhoGEF and PH domain-containing protein 1
Alternative name(s):
Faciogenital dysplasia 1 protein
Rho/Rac guanine nucleotide exchange factor FGD1
Short name:
Rho/Rac GEF
Zinc finger FYVE domain-containing protein 3
Gene namesi
Name:FGD1
Synonyms:FGDY, ZFYVE3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102302.7
HGNCiHGNC:3663 FGD1
MIMi300546 gene
neXtProtiNX_P98174

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Aarskog-Scott syndrome (AAS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.
See also OMIM:305400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019268205S → I in AAS. 1 Publication1
Natural variantiVAR_019270380E → A in AAS. 1 Publication1
Natural variantiVAR_019271443R → H in AAS. 1 Publication1
Natural variantiVAR_015236522R → H in AAS. 1 PublicationCorresponds to variant dbSNP:rs137853264EnsemblClinVar.1
Natural variantiVAR_015237610R → Q in AAS. 1 PublicationCorresponds to variant dbSNP:rs28935497EnsemblClinVar.1
Defects in FGD1 are found in a patient with non-syndromal X-linked mental retardation.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2245
MalaCardsiFGD1
MIMi305400 phenotype
OpenTargetsiENSG00000102302
Orphaneti915 Aarskog-Scott syndrome
PharmGKBiPA28102

Chemistry databases

ChEMBLiCHEMBL2862

Polymorphism and mutation databases

BioMutaiFGD1
DMDMi28202247

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809401 – 961FYVE, RhoGEF and PH domain-containing protein 1Add BLAST961

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei48PhosphoserineCombined sources1
Modified residuei205PhosphoserineCombined sources1
Modified residuei711PhosphothreonineCombined sources1
Modified residuei715PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP98174
MaxQBiP98174
PaxDbiP98174
PeptideAtlasiP98174
PRIDEiP98174
ProteomicsDBi57809

PTM databases

iPTMnetiP98174
PhosphoSitePlusiP98174

Expressioni

Tissue specificityi

Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.

Gene expression databases

BgeeiENSG00000102302
CleanExiHS_FGD1
ExpressionAtlasiP98174 baseline and differential
GenevisibleiP98174 HS

Organism-specific databases

HPAiHPA000911

Interactioni

Subunit structurei

Interacts with DBNL/ABP1 and CTTN. May interact with CCPG1 (By similarity). Binds CDC42.By similarity

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB
  • Rho guanyl-nucleotide exchange factor activity Source: Reactome
  • small GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108536, 13 interactors
ELMiP98174
IntActiP98174, 10 interactors
STRINGi9606.ENSP00000364277

Chemistry databases

BindingDBiP98174

Structurei

3D structure databases

ProteinModelPortaliP98174
SMRiP98174
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini373 – 561DHPROSITE-ProRule annotationAdd BLAST189
Domaini590 – 689PH 1PROSITE-ProRule annotationAdd BLAST100
Domaini821 – 921PH 2PROSITE-ProRule annotationAdd BLAST101

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi171 – 187SH3-bindingSequence analysisAdd BLAST17

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi7 – 330Pro-richAdd BLAST324

Domaini

The DH domain is involved in interaction with CCPG1.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri730 – 790FYVE-typePROSITE-ProRule annotationAdd BLAST61

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG4424 Eukaryota
ENOG410XRXV LUCA
GeneTreeiENSGT00920000148981
HOGENOMiHOG000220866
HOVERGENiHBG007506
InParanoidiP98174
KOiK05720
OMAiLVNTWTE
OrthoDBiEOG091G03FU
PhylomeDBiP98174
TreeFamiTF316247

Family and domain databases

CDDicd01219 PH1_FGD1, 1 hit
cd13236 PH2_FGD1-4, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 2 hits
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR035941 FGD1-4_PH2
IPR035939 FGD1_PH1
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF01363 FYVE, 1 hit
PF00169 PH, 2 hits
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00064 FYVE, 1 hit
SM00233 PH, 2 hits
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 2 hits
PS50178 ZF_FYVE, 1 hit

Sequencei

Sequence statusi: Complete.

P98174-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHGHRAPGGA GPSEPEHPAT NPPGAAPPAC ADSDPGASEP GLLARRGSGS
60 70 80 90 100
ALGGPLDPQF VGPSDTSLGA APGHRVLPCG PSPQHHRALR FSYHLEGSQP
110 120 130 140 150
RPGLHQGNRI LVKSLSLDPG QSLEPHPEGP QRLRSDPGPP TETPSQRPSP
160 170 180 190 200
LKRAPGPKPQ VPPKPSYLQM PRMPPPLEPI PPPPSRPLPA DPRVAKGLAP
210 220 230 240 250
RAEASPSSAA VSSLIEKFER EPVIVASDRP VPGPSPGPPE PVMLPQPTSQ
260 270 280 290 300
PPVPQLPEGE ASRCLFLLAP GPRDGEKVPN RDSGIDSISS PSNSEETCFV
310 320 330 340 350
SDDGPPSHSL CPGPPALASV PVALADPHRP GSQEVDSDLE EEDDEEEEEE
360 370 380 390 400
KDREIPVPLM ERQESVELTV QQKVFHIANE LLQTEKAYVS RLHLLDQVFC
410 420 430 440 450
ARLLEEARNR SSFPADVVHG IFSNICSIYC FHQQFLLPEL EKRMEEWDRY
460 470 480 490 500
PRIGDILQKL APFLKMYGEY VKNFDRAVEL VNTWTERSTQ FKVIIHEVQK
510 520 530 540 550
EEACGNLTLQ HHMLEPVQRI PRYELLLKDY LLKLPHGSPD SKDAQKSLEL
560 570 580 590 600
IATAAEHSNA AIRKMERMHK LLKVYELLGG EEDIVSPTKE LIKEGHILKL
610 620 630 640 650
SAKNGTTQDR YLILFNDRLL YCVPRLRLLG QKFSVRARID VDGMELKESS
660 670 680 690 700
NLNLPRTFLV SGKQRSLELQ ARTEEEKKDW VQAINSTLLK HEQTLETFKL
710 720 730 740 750
LNSTNREDED TPPNSPNVDL GKRAPTPIRE KEVTMCMRCQ EPFNSITKRR
760 770 780 790 800
HHCKACGHVV CGKCSEFRAR LVYDNNRSNR VCTDCYVALH GVPGSSPACS
810 820 830 840 850
QHTPQRRRSI LEKQASVAAE NSVICSFLHY MEKGGKGWHK AWFVVPENEP
860 870 880 890 900
LVLYIYGAPQ DVKAQRSLPL IGFEVGPPEA GERPDRRHVF KITQSHLSWY
910 920 930 940 950
FSPETEELQR RWMAVLGRAG RGDTFCPGPT LSEDREMEEA PVAALGATAE
960
PPESPQTRDK T
Length:961
Mass (Da):106,561
Last modified:February 1, 2003 - v2
Checksum:i30963F7B9931E45C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10 – 23AGPSE…ATNPP → RRAFGARTPGHEPA (PubMed:7954831).CuratedAdd BLAST14
Sequence conflicti195A → G in AAA57004 (PubMed:7954831).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019268205S → I in AAS. 1 Publication1
Natural variantiVAR_019269312P → L in non-syndromal X-linked mental retardation. 1 PublicationCorresponds to variant dbSNP:rs28935498EnsemblClinVar.1
Natural variantiVAR_019270380E → A in AAS. 1 Publication1
Natural variantiVAR_019271443R → H in AAS. 1 Publication1
Natural variantiVAR_015236522R → H in AAS. 1 PublicationCorresponds to variant dbSNP:rs137853264EnsemblClinVar.1
Natural variantiVAR_015237610R → Q in AAS. 1 PublicationCorresponds to variant dbSNP:rs28935497EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U11690 mRNA Translation: AAA57004.1
Z85987 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93179.1
BC034530 mRNA Translation: AAH34530.1
CCDSiCCDS14359.1
PIRiA55380
RefSeqiNP_004454.2, NM_004463.2
UniGeneiHs.709201

Genome annotation databases

EnsembliENST00000375135; ENSP00000364277; ENSG00000102302
GeneIDi2245
KEGGihsa:2245
UCSCiuc004dtg.3 human

Similar proteinsi

Entry informationi

Entry nameiFGD1_HUMAN
AccessioniPrimary (citable) accession number: P98174
Secondary accession number(s): Q5H999, Q8N4D9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 1, 2003
Last modified: June 20, 2018
This is version 179 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health